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1.
Med Glas (Zenica) ; 17(1): 1-6, 2020 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-31535545

RESUMO

Aim To determine differences in quantitative traits of digital dermatoglyphics between breast cancer women and the women in the control group (healthy women). Methods This case-control study included digital dermatoglyphics of 50 patients with confirmed breast cancer diagnosis compared with 50 healthy examinees with the absence of familial history of any type of cancer. Collecting samples was performed among Bosnian-Herzegovinian population by Printake method. The comparison of the mean values between the examined groups was made by the Student's t-test and Mann-Whitney U test. Results The results showed that, with regards to the pattern intensity, no statistically significant difference was detected between the two examined groups (p>0.05).The absence of any significant difference in the number of papillary ridges on an individual finger between the breast cancer patients and the control group was found (p>0.05), although the total number of papillary ridges on all ten fingers had somewhat lower values in the examined group. Conclusion This research confirms the existence of genetic predisposition for breast cancer development, emphasizing the relevance of hereditary factors in the ethiopathogenesis of this disease. The quantitative traits of digital dermatoglyphics were not a reliable and predictive tool for detecting a potential risk for breast cancer in small populations.


Assuntos
Neoplasias da Mama , Dermatoglifia , Neoplasias da Mama/genética , Estudos de Casos e Controles , Feminino , Nível de Saúde , Humanos
2.
Med Arch ; 72(4): 289-291, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30514997

RESUMO

INTRODUCTION: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Cardiovascular system is very rarely affected and there are a limited number of publications where WRS is associated with congenital heart disease. The aim of this interesting case is to report an infant with Wolcott - Rallison syndrome, type I diabetes mellitus, and complex congenital heart disease, diagnosed in a pre term neonate. CASE REPORT: A case of preterm neonate who presented immediately after delivery with hyperglycemia and heart murmur. Clinical and laboratory investigation showed diabetes mellitus type I and double outlet right ventricle. Genetic examination showed classic mutations in the EIF2AK3 gene - eukaryotic translation initiation factor 2α kinase 3. Conclusion: Diabetes in neonatal age raises doubts about the possibility of association with the syndrome and other diseases.


Assuntos
Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 1/terapia , Epífises/anormalidades , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/terapia , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/terapia , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro
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